Initially, high-resolution homozygosity mapping was performed by genotyping both affected individuals, II-2 and II-5, of family 1 using the Affymetrix GeneChip Human Mapping 250K Nsp SNP array. Analysis was performed as described7 and a large block of 98.6% homozygosity shared by both siblings was identified on chromosome 18 between rs1944983 and rs2194631, which contains several SERPIN genes
Family 1: individuals II-2 and II-5 underwent homozygosity mapping which resulted in the finding of homozygous regions on chromosome 18 between rs1944983 and rs2194631 in both individuals - This region carries some SERPIN genes